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Epidermolysis bullosa simplex with muscular dystrophy.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
simplex
(
EBS
)
is
an
inherited
skin
disorder
characterized
by
separation
of
the
epidermis
from
the
underlying
dermis
,
with
the
cleavage
plane
lying
within
the
basal
-cell
layer
of
the
epithelium
.
The
major
clinical
subtypes
of
EBS
have
a
dominant
inheritance
and
have
been
associated
with
genetic
defects
in
specific
domains
of
keratins
K
5
and
K
14
that
result
in
abnormal
organization
of
the
keratin
network
and
cell
disruption
.
Autosomal
recessive
forms
of
EBS
associated
with
extracutaneous
manifestations
,
such
as
muscular
dystrophy
(
MIM
226670
)
or
pyloric
atresia
(
MIM
612138
)
,
have
been
linked
to
genetic
mutations
in
the
gene
for
plectin
(
PLEC
)
.
PLEC
mutations
have
also
been
found
in
2
families
with
the
rare
dominant
Ogna
form
of
EBS
.
This
article
reviews
current
knowledge
on
EBS
.